Sugi Variant

Sugi Variant/S1PR2

S1PR2 — 148 ClinVar variants

All ClinVar germline S1PR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

2 Pathogenic · 7 Conflicting · 9 Benign · 8 Benign/Likely benign · 46 Likely benign · 76 Uncertain significance

Full S1PR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 6

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 67

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 7

The independent predictors disagree with each other — read with care.

All S1PR2 variants

Pathogenic 2

  • p.Arg108Pro No assertion criteria autosomal recessive nonsyndromic hearing loss 68
  • p.Tyr140Cys No assertion criteria autosomal recessive nonsyndromic hearing loss 68 ⚠

Conflicting classifications of pathogenicity 7

Benign 9

Benign/Likely benign 8

Likely benign 46

Uncertain significance 76